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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-87309595-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=87309595&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 87309595,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_022918.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.859C>A",
"hgvs_p": "p.Arg287Arg",
"transcript": "NM_022918.4",
"protein_id": "NP_075069.3",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 458,
"cds_start": 859,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305494.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022918.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.859C>A",
"hgvs_p": "p.Arg287Arg",
"transcript": "ENST00000305494.6",
"protein_id": "ENSP00000306344.5",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 458,
"cds_start": 859,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022918.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305494.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.793C>A",
"hgvs_p": "p.Arg265Arg",
"transcript": "ENST00000340353.11",
"protein_id": "ENSP00000345513.6",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 436,
"cds_start": 793,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340353.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.904C>A",
"hgvs_p": "p.Arg302Arg",
"transcript": "ENST00000954970.1",
"protein_id": "ENSP00000625029.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 473,
"cds_start": 904,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954970.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.856C>A",
"hgvs_p": "p.Arg286Arg",
"transcript": "ENST00000934696.1",
"protein_id": "ENSP00000604755.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 457,
"cds_start": 856,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934696.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.817C>A",
"hgvs_p": "p.Arg273Arg",
"transcript": "ENST00000854944.1",
"protein_id": "ENSP00000525003.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 444,
"cds_start": 817,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854944.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.793C>A",
"hgvs_p": "p.Arg265Arg",
"transcript": "NM_001168724.2",
"protein_id": "NP_001162195.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 436,
"cds_start": 793,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168724.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Arg256Arg",
"transcript": "ENST00000854940.1",
"protein_id": "ENSP00000524999.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 427,
"cds_start": 766,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854940.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.859C>A",
"hgvs_p": "p.Arg287Arg",
"transcript": "ENST00000854942.1",
"protein_id": "ENSP00000525001.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 411,
"cds_start": 859,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854942.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.712C>A",
"hgvs_p": "p.Arg238Arg",
"transcript": "ENST00000954972.1",
"protein_id": "ENSP00000625031.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 409,
"cds_start": 712,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954972.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.709C>A",
"hgvs_p": "p.Arg237Arg",
"transcript": "ENST00000954969.1",
"protein_id": "ENSP00000625028.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 408,
"cds_start": 709,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954969.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.700C>A",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000854945.1",
"protein_id": "ENSP00000525004.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 405,
"cds_start": 700,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854945.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"transcript": "ENST00000854946.1",
"protein_id": "ENSP00000525005.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 395,
"cds_start": 670,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854946.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.793C>A",
"hgvs_p": "p.Arg265Arg",
"transcript": "ENST00000954971.1",
"protein_id": "ENSP00000625030.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 389,
"cds_start": 793,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954971.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Arg202Arg",
"transcript": "ENST00000854941.1",
"protein_id": "ENSP00000525000.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 373,
"cds_start": 604,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854941.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.538C>A",
"hgvs_p": "p.Arg180Arg",
"transcript": "ENST00000934697.1",
"protein_id": "ENSP00000604756.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 351,
"cds_start": 538,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934697.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.472C>A",
"hgvs_p": "p.Arg158Arg",
"transcript": "ENST00000532959.5",
"protein_id": "ENSP00000436179.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 329,
"cds_start": 472,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532959.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Arg",
"transcript": "XM_017018141.3",
"protein_id": "XP_016873630.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 330,
"cds_start": 475,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018141.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "XM_017018142.2",
"protein_id": "XP_016873631.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 319,
"cds_start": 442,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018142.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "c.768+3590C>A",
"hgvs_p": null,
"transcript": "ENST00000854943.1",
"protein_id": "ENSP00000525002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"hgvs_c": "n.937C>A",
"hgvs_p": null,
"transcript": "NR_033149.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033149.2"
}
],
"gene_symbol": "TMEM135",
"gene_hgnc_id": 26167,
"dbsnp": "rs750838526",
"frequency_reference_population": 0.0000013683747,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136837,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.1599999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.657,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4,BP7",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022918.4",
"gene_symbol": "TMEM135",
"hgnc_id": 26167,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.859C>A",
"hgvs_p": "p.Arg287Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}